Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Pathogenic variants in the HIBCH gene cause HIBCH deficiency, leading to mitochondrial disorders associated with valine metabolism. Patients typically present with symptoms such as developmental regression/delay, encephalopathy, hypotonia and dystonia. Brain magnetic resonance imaging (MRI) shows bi...

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Detalles Bibliográficos
Autores principales: Taura, Yoshihiro, Tozawa, Takenori, Isoda, Kenichi, Hirai, Satori, Chiyonobu, Tomohiro, Yano, Naoko, Hayashi, Takahiro, Yoshida, Takeshi, Iehara, Tomoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442384/
https://www.ncbi.nlm.nih.gov/pubmed/37604814
http://dx.doi.org/10.1038/s41439-023-00251-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442384/
https://www.ncbi.nlm.nih.gov/pubmed/37604814
http://dx.doi.org/10.1038/s41439-023-00251-y

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